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Coxoauricular syndrome

ORPHA1508
Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance Unknown
Age of onset Neonatal
ICD-10
  • Q87.1
OMIM
UMLS -
MeSH -
MedDRA -

Summary

Disease definition

Coxoauricular syndrome is an extremely rare primary bone defect, described only in a mother and her three daughters to date, characterized by short stature, hip dislocation, minor vertebral and pelvic changes, and microtia with hearing loss. There have been no further descriptions in the literature since 1981.

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